Trait: Dupuytren Contracture

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004229
Description A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50.
Trait category
Other disease
Synonyms 2 synonyms
  • Dupuytren's Contracture
  • Dupuytren's Disease
Mapped terms 3 mapped terms
  • MeSH:D004387
  • SNOMEDCT:274142002
  • SNOMEDCT:410812005

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS001254
(GBE_HC177)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Dupuytren's contracture Dupuytren Contracture 11
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001254/ScoringFiles/PGS001254.txt.gz
PGS001880
(portability-PLR_728.71)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Contracture of palmar fascia [Dupuytren's disease] Dupuytren Contracture 2,443
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001880/ScoringFiles/PGS001880.txt.gz
PGS002092
(portability-ldpred2_728.71)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Contracture of palmar fascia [Dupuytren's disease] Dupuytren Contracture 484,484
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002092/ScoringFiles/PGS002092.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM)
Evaluated Score PGS Sample Set ID
(PSS)
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM008779 PGS001254
(GBE_HC177)
PSS004332|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Dupuytren's contracture AUROC: 0.78857 [0.69837, 0.87877] : 0.07412
Incremental AUROC (full-covars): 0.03925
PGS R2 (no covariates): 0.02488
PGS AUROC (no covariates): 0.65251 [0.53357, 0.77144]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008780 PGS001254
(GBE_HC177)
PSS004333|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Dupuytren's contracture AUROC: 0.74126 [0.69429, 0.78823] : 0.05438
Incremental AUROC (full-covars): 0.04471
PGS R2 (no covariates): 0.02466
PGS AUROC (no covariates): 0.66457 [0.60823, 0.72091]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009925 PGS001880
(portability-PLR_728.71)
PSS009357|
European Ancestry|
18,971 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.0783 [0.0641, 0.0924] sex, age, birth date, deprivation index, 16 PCs
PPM009926 PGS001880
(portability-PLR_728.71)
PSS009131|
European Ancestry|
3,900 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.1046 [0.0734, 0.1357] sex, age, birth date, deprivation index, 16 PCs
PPM009927 PGS001880
(portability-PLR_728.71)
PSS008685|
European Ancestry|
6,356 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.076 [0.0514, 0.1004] sex, age, birth date, deprivation index, 16 PCs
PPM009928 PGS001880
(portability-PLR_728.71)
PSS008459|
Greater Middle Eastern Ancestry|
1,131 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.0428 [-0.016, 0.1014] sex, age, birth date, deprivation index, 16 PCs
PPM009930 PGS001880
(portability-PLR_728.71)
PSS007803|
African Ancestry|
2,335 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): -0.0262 [-0.0669, 0.0145] sex, age, birth date, deprivation index, 16 PCs
PPM009931 PGS001880
(portability-PLR_728.71)
PSS008907|
African Ancestry|
3,732 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): -0.0009 [-0.0331, 0.0312] sex, age, birth date, deprivation index, 16 PCs
PPM009929 PGS001880
(portability-PLR_728.71)
PSS008239|
South Asian Ancestry|
5,940 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.0269 [0.0014, 0.0524] sex, age, birth date, deprivation index, 16 PCs
PPM011593 PGS002092
(portability-ldpred2_728.71)
PSS009357|
European Ancestry|
18,971 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.0797 [0.0655, 0.0938] sex, age, birth date, deprivation index, 16 PCs
PPM011594 PGS002092
(portability-ldpred2_728.71)
PSS009131|
European Ancestry|
3,900 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.1036 [0.0724, 0.1346] sex, age, birth date, deprivation index, 16 PCs
PPM011596 PGS002092
(portability-ldpred2_728.71)
PSS008459|
Greater Middle Eastern Ancestry|
1,131 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.045 [-0.0139, 0.1035] sex, age, birth date, deprivation index, 16 PCs
PPM011597 PGS002092
(portability-ldpred2_728.71)
PSS008239|
South Asian Ancestry|
5,940 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.0315 [0.0061, 0.057] sex, age, birth date, deprivation index, 16 PCs
PPM011598 PGS002092
(portability-ldpred2_728.71)
PSS007803|
African Ancestry|
2,335 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): -0.0255 [-0.0661, 0.0153] sex, age, birth date, deprivation index, 16 PCs
PPM011599 PGS002092
(portability-ldpred2_728.71)
PSS008907|
African Ancestry|
3,732 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.0031 [-0.0291, 0.0353] sex, age, birth date, deprivation index, 16 PCs
PPM011595 PGS002092
(portability-ldpred2_728.71)
PSS008685|
European Ancestry|
6,356 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Contracture of palmar fascia [Dupuytren's disease] Partial Correlation (partial-r): 0.0817 [0.0572, 0.1061] sex, age, birth date, deprivation index, 16 PCs

Evaluated Samples

PGS Sample Set ID
(PSS)
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS009131 3,900 individuals European Poland (NE Europe) UKB
PSS008459 1,131 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009357 18,971 individuals European UK (+ Ireland) UKB
PSS008685 6,356 individuals European Italy (South Europe) UKB
PSS008907 3,732 individuals African unspecified Nigeria (West Africa) UKB
PSS008239 5,940 individuals South Asian India (South Asia) UKB
PSS004332
[
  • 23 cases
  • , 24,882 controls
]
European non-white British ancestry UKB
PSS004333
[
  • 91 cases
  • , 67,334 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS007803 2,335 individuals African American or Afro-Caribbean Carribean UKB